Canonical Allele Identifier: CA2664412716

Linked Data

gnomAD v4: 3-10289675-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10289675G>A , CM000665.2:g.10289675G>A GRCh38
NC_000003.11:g.10331359G>A , CM000665.1:g.10331359G>A GRCh37
NC_000003.10:g.10306359G>A NCBI36
NG_011560.1:g.8273C>T
NG_033090.1:g.13724G>A
NG_033090.2:g.13724G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000335542.13:c.225+87C>T (GHRL) MANE Select ENSP00000335074.8:n.225+87C>T
ENST00000287656.11:c.222+87C>T (GHRL) ENSP00000287656.7:n.222+87C>T
ENST00000335542.12:c.225+87C>T (GHRL) ENSP00000335074.8:n.225+87C>T
ENST00000422159.5:c.225+87C>T (GHRL) ENSP00000405464.1:n.225+87C>T
ENST00000429122.1:c.225+87C>T (GHRL) ENSP00000414819.1:n.225+87C>T
ENST00000430179.5:c.222+87C>T (GHRL) ENSP00000399922.1:n.222+87C>T
ENST00000437422.6:c.189+87C>T (GHRL) ENSP00000416768.2:n.189+87C>T
ENST00000439975.6:c.73-2863C>T (GHRL) ENSP00000403725.2:n.73-2863C>T
ENST00000446937.2:c.72+3167C>T (GHRL) ENSP00000394923.2:n.72+3167C>T
ENST00000449238.6:c.186+87C>T (GHRL) ENSP00000388145.2:n.186+87C>T
ENST00000457360.5:c.225+87C>T (GHRL) ENSP00000391406.1:n.225+87C>T
ENST00000475759.5:n.46+87C>T (GHRL)
ENST00000476283.1:n.46+87C>T (GHRL)
ENST00000481287.5:n.402+87C>T (GHRL)
ENST00000491589.5:n.316+87C>T (GHRL)
NM_001134941.2:c.222+87C>T (GHRL) NP_001128413.1:n.222+87C>T
NM_001134944.1:c.189+87C>T (GHRL) NP_001128416.1:n.189+87C>T
NM_001134945.1:c.186+87C>T (GHRL) NP_001128417.1:n.186+87C>T
NM_001134946.1:c.73-2863C>T (GHRL) NP_001128418.1:n.73-2863C>T
NM_001302821.1:c.225+87C>T (GHRL) NP_001289750.1:n.225+87C>T
NM_001302822.1:c.225+87C>T (GHRL) NP_001289751.1:n.225+87C>T
NM_001302823.1:c.222+87C>T (GHRL) NP_001289752.1:n.222+87C>T
NM_001302824.1:c.225+87C>T (GHRL) NP_001289753.1:n.225+87C>T
NM_001302825.1:c.225+87C>T (GHRL) NP_001289754.1:n.225+87C>T
NM_016362.4:c.225+87C>T (GHRL) NP_057446.1:n.225+87C>T
NR_004431.3:n.383+1573G>A (GHRLOS)
NR_024144.2:n.466+1573G>A (GHRLOS)
NR_024145.2:n.555+1573G>A (GHRLOS)
NR_073566.1:n.566+1569G>A (GHRLOS)
NR_073567.1:n.554+1573G>A (GHRLOS)
NR_073568.1:n.409+1573G>A (GHRLOS)
NR_126505.1:n.106+3167C>T (GHRL)
XM_017006612.2:c.225+87C>T (GHRL) XP_016862101.1:n.225+87C>T
XM_017006613.2:c.222+87C>T (GHRL) XP_016862102.1:n.222+87C>T
XM_024453594.1:c.225+87C>T (GHRL) XP_024309362.1:n.225+87C>T
NM_001134941.3:c.222+87C>T (GHRL) NP_001128413.1:n.222+87C>T
NM_001134944.2:c.189+87C>T (GHRL) NP_001128416.1:n.189+87C>T
NM_001134945.2:c.186+87C>T (GHRL) NP_001128417.1:n.186+87C>T
NM_001134946.2:c.73-2863C>T (GHRL) NP_001128418.1:n.73-2863C>T
NM_001302821.2:c.225+87C>T (GHRL) NP_001289750.1:n.225+87C>T
NM_001302822.2:c.225+87C>T (GHRL) NP_001289751.1:n.225+87C>T
NM_001302823.2:c.222+87C>T (GHRL) NP_001289752.1:n.222+87C>T
NM_001302824.2:c.225+87C>T (GHRL) NP_001289753.1:n.225+87C>T
NM_001302825.2:c.225+87C>T (GHRL) NP_001289754.1:n.225+87C>T
NM_016362.5:c.225+87C>T (GHRL) MANE Select NP_057446.1:n.225+87C>T
NR_126505.2:n.106+3167C>T (GHRL)